Frontonasal process-specific disruption of AP-2α results in postnatal midfacial hypoplasia, vascular anomalies, and nasal cavity defects
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چکیده
منابع مشابه
Optic disc anomalies and frontonasal dysplasia.
AIMS To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele. METHODS Names and hospital numbers of patients with midline clefts were obtained from the ophthalmology and genetics database. Six patients were identified who had the following common findings: midline facial cleft with midline cleft lip and palate; hypertelorism; abs...
متن کاملDisruption of the FEN-1/PCNA interaction results in DNA replication defects, pulmonary hypoplasia, pancytopenia, and newborn lethality in mice.
The interaction between flap endonuclease 1 (FEN-1) and proliferation cell nuclear antigen (PCNA) is critical for faithful and efficient Okazaki fragment maturation. In a living cell, this interaction is probably important for PCNA to load FEN-1 to the replication fork, to coordinate the sequential functions of FEN-1 and other enzymes, and to stimulate its enzyme activity. The FEN-1/PCNA intera...
متن کاملTsc2 disruption in mesenchymal progenitors results in tumors with vascular anomalies overexpressing Lgals3
Increased mTORC1 signaling from TSC1/TSC2 inactivation is found in cancer and causes tuberous sclerosis complex (TSC). The role of mesenchymal-derived cells in TSC tumorigenesis was investigated through disruption of Tsc2 in craniofacial and limb bud mesenchymal progenitors. Tsc2cKOPrrx1-cre mice had shortened lifespans and extensive hamartomas containing abnormal tortuous, dilated vessels prom...
متن کاملthe study of bright and surface discrete cavity solitons dynamics in saturable nonlinear media
امروزه سالیتون ها بعنوان امواج جایگزیده ای که تحت شرایط خاص بدون تغییر شکل در محیط منتشر می-شوند، زمینه مطالعات گسترده ای در حوزه اپتیک غیرخطی هستند. در این راستا توجه به پدیده پراش گسسته، که بعنوان عامل پهن شدگی باریکه نوری در آرایه ای از موجبرهای جفت شده، ظاهر می گردد، ضروری است، زیرا سالیتون های گسسته از خنثی شدن پراش گسسته در این سیستم ها بوسیله عوامل غیرخطی بوجود می آیند. گسستگی سیستم عامل...
Nasal cavity vascular leiomyoma: case report and literature review.
Liomyomas of the nasal cavity and paranasal sinuses are rare. They make up less than 1% of all leiomyomas in the human body. This is due to the paucity of smooth muscle in the nose. They are classified in three groups: leiomyoma, angiomyoma and epithelioid leiomyoma. Only 15 cases of vascular leiomyomas have been found in the literature. The treatment of choice is surgical excision. Hereby we p...
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ژورنال
عنوان ژورنال: Developmental Biology
سال: 2004
ISSN: 0012-1606
DOI: 10.1016/j.ydbio.2003.10.033